Assessment of PowerPlex® Fusion 5C's ability to type degraded DNA.

DNA samples collected at crime scenes are often degraded so this research focused on the ability of the Promega PowerPlex® Fusion 5C amplification kit to type both naturally and artificially degraded DNA. DNA was degraded naturally by placing equal volumes of blood on white fabric that was stored either inside, outside in a shaded area, or outside in direct sunlight. Samples were then collected every 10 days for 60 days and the DNA extracted (QIAamp® DNA Investigator).

Liver transplantation in oxalosis prior to advanced chronic kidney disease.

While curative of the disease, combined kidney and liver transplantation (K/LTx) for primary hyperoxaluria type 1 (PH1) continues to carry with it a risk for patient death of 15-25%, which over time may not differ from that of kidney transplantation alone (KTx). In this editorial, survival data are reviewed as well as the limited data available for kidney graft function, which may favor K/LTx in the short term but is more uncertain in the longer term. The window of opportunity that favors preemptive K/LTx is relatively narrow and is likely even narrower for preemptive isolated LTx.

Sickle cell disease and the kidney.

The renal features of sickle cell disease (SCD) include some of the most common reasons for referral to nephrologists, such as hematuria, proteinuria, tubular disturbances and chronic kidney disease. Therapy of these conditions requires specialized knowledge of their distinct pathogenic mechanisms. Painless hematuria is usually benign--unless massive--and can be treated with hydration alone if renal medullary carcinoma has been ruled out.

Pediatric obstructive uropathy: clinical trials.

As the powerful tools of molecular biology continue to delineate new concepts of pathogenesis of diseases, new molecular-level therapeutic modalities are certain to emerge. In order to design and execute clinical trials to evaluate outcomes of these new treatment modalities, we will soon need a new supply of investigators with training and experience in clinical research. The slowly-progressive nature of chronic pediatric kidney disease often results in diagnosis being made at a time remote from initial insult, and the inherently slow rate of progression makes changes difficult to measure.

Tools to detect and modify sickle cell nephropathy.

Placement of the development of a sickle cell nephropathy in a time/event line is helped by better measures of glomerular filtration rate, tubular dysfunction, and proteinuria. Preventing or slowing the nephropathy can improve the outcome of this complication of the devastating sickle cell disease.

Pyridoxamine lowers oxalate excretion and kidney crystals in experimental hyperoxaluria: a potential therapy for primary hyperoxaluria.

In order to prevent kidney stones and nephrolithiasis in hyperoxaluria, a new treatment that specifically reduces oxalate production and therefore urinary oxalate excretion would be extremely valuable. Pyridoxamine(PM) could react with the carbonyl intermediates of oxalate biosynthesis, glycolaldehyde and glyoxylate, and prevent their metabolism to oxalate. In PM treated rats, endogenous urinary oxalate levels were consistently lower and became statistically different from controls after 12 days of experiment.

Pyridoxamine lowers kidney crystals in experimental hyperoxaluria: a potential therapy for primary hyperoxaluria.

Background: Primary hyperoxaluria is a rare genetic disorder of glyoxylate metabolism that results in overproduction of oxalate. The disease is characterized by severe calcium oxalate nephrolithiasis and nephrocalcinosis, resulting in end-stage renal disease (ESRD) early in life. Most patients eventually require dialysis and kidney transplantation, usually in combination with the replacement of the liver.

Vitamin E therapy in IgA nephropathy: a double-blind, placebo-controlled study.

IgA nephropathy is the world's most common primary glomerulonephropathy. Recent evidence in a rat model implicated excessive production of oxygen-free radicals in the pathogenesis and suggested that vitamin E-treatment ameliorated progression. We studied this antioxidant therapy on the glomerular filtration rate (GFR), proteinuria and hematuria in biopsy-proven IgA nephropathy in children.

Sickle cell disease and the kidney.

Sickle cell disease (SCD) affects the kidney by acute mechanisms, as a form of the sickle crisis, and insidiously with renal medullary/papillary necrosis, with resulting tubular defects. Glomerular hyperperfusion and hypertrophy results in a chronic sickle cell nephropathy that results in a significant morbidity in the progression to end-stage kidney disease. Kidney transplantation offers a major advantage to survival, and should be coupled with efforts toward prevention of recurrent disease.

Primary hyperoxaluria in infants: medical, ethical, and economic issues.

Objectives: Survey on the current medical approach to and the economic issues affecting infants with primary hyperoxaluria type 1.

Methods: Questionnaire to specialized centers worldwide.

Results: Seventy-eight infants were identified: 44% were of Muslim origin and 56% were not.

Transplantation for primary hyperoxaluria in the United States.

Background: Transplantation (TX) has become an acceptable treatment for renal failure in primary hyperoxaluria (PH). We have analyzed data from three U.S.

Chronic renal failure: an overview from a pediatric perspective.

We present data on the costs and impact of chronic renal failure, the primary renal diseases leading to end-stage renal disease in children, and review the adaptive responses and the pathophysiology and complications of uremia in experimental animals and in man. A treatment strategy is summarized.

Genetic renal disease.

Many genetic renal disease now have specific genetic definitions, allowing prognostication. Several glomerular basement membrane defects include Alport's syndrome and benign familial hematurias. Genetic tubular or interstitial structural defects likely include familial juvenile nephronophthisis, as well as the polycystic diseases.

Recent data on results of isolated kidney or combined kidney/liver transplantation in the U.S.A. for primary hyperoxaluria.

Renal transplant for primary hyperoxaluria (PH) has been problematic. K/L-Tx is used almost exclusively in Europe. In USRDS data 235 patients had PH diagnosed at ESRD, another 47 found later.

Perspective of a pediatric nephrology program: an 18 year retrospective.

We analyzed the patient profile in a pediatric nephrology training program, along with data collected over an 18 year period, to determine whether there is merit in the proposition that clinical training can be obtained equally well in internal medicine nephrology training programs. We also compared the rate of patient referral in an U.S.

Neonatal edema.

Edema develops in the neonate from diverse clinical conditions; sometimes it heralds serious underlying disorders. In this review, we discuss the diagnosis and treatment of edema in the neonate.

IgA nephropathy: to treat or not to treat?

IgA nephropathy (Berger's disease) is thought to be the most common primary glomerulonephritis in the world. Characteristically, it presents with intermittent macroscopic hematuria in association with upper respiratory infections. The diagnosis is established by demonstrating predominant IgA deposits in the glomerular mesangium.

Effects of uremia on growth in children.

Growth failure is a major complication of uremia in infancy and childhood. The influence of the primary renal disease leading to uremic growth retardation in children, the contributing factors leading to growth failure, such as metabolic acidosis, renal osteodystrophy, hyperparathyroidism, nutrition-endocrine and developmental disorders, are reviewed to update nephrologists on the complex issue of growth failure in children with uremia. The collaboration between endocrinologists and nephrologists in treating children with growth retardation is highlighted by a recently completed National Institutes of Health (NIH)-funded clinical trial on renal osteodystrophy plus the use of recombinant human growth hormone and insulin-like growth factor.